ArticleJournal of community hospital internal medicine perspectives2017
Danon disease for the cardiologist: case report and review of the literature.
Article in Journal of community hospital internal medicine perspectives, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Case Report: A typical triad of Danon disease caused by a LAMP2 splice-donor variant with multilevel functional validation.Frontiers in cardiovascular medicine · 2026Article
- Progression of Danon disease with medical imaging: two case reports.The Journal of international medical research · 2021Article
- Article
- The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients.Pediatric cardiology · 2020Article
- A novel truncating variant in theArchives of medical science : AMS · 2020Article
- Multimodality Imaging of Danon Disease in a Patient with a NovelCASE (Philadelphia, Pa.) · 2019Article
- Danon disease: Two patients with atrial fibrillation in a single family and review of the literature.Experimental and therapeutic medicine · 2019Article
- Article
- Article
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Authors and funding
3 authors.
Funding
Abstract
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death. He had significant hypertrophic cardiomyopathy (ventricular septal thickness 65 mm) and experienced various arrhythmias during his clinical course including Wolf-Parkinson-White syndrome, non-sustained ventricular tachycardia, and pre-excited atrial fibrillation with a fasciculoventricular anomalous accessory pathway. He had sudden cardiac death from ventricular fibrillation at age 14 and his heart had a weight of 1425 grams at autopsy. We also provide a review of the cardiac Danon disease literature related to diagnostic and management approaches to aid cardiologists in evaluating and treating cardiac manifestations in Danon disease patients.
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